ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.393-10C>T

gnomAD frequency: 0.00314  dbSNP: rs117183629
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454705 SCV000540646 likely benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: No change to splice consensus
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625144 SCV000743871 likely benign Herpes simplex encephalitis, susceptibility to, 1 2017-06-02 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625144 SCV000745298 likely benign Herpes simplex encephalitis, susceptibility to, 1 2017-06-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000625144 SCV000768807 benign Herpes simplex encephalitis, susceptibility to, 1 2024-01-31 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV001824784 SCV002074824 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.

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